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Table 1 Patient Medical Records Information

From: Detection of mutations in the dystrophin gene via automated DHPLC screening and direct sequencing

Patient Number

Pathology

Dystrophin Analysis 1

CPK (IU/L)2

At Age (years)

01

Consistent with

Absent

12,500

6.5

 

DMD

   

02

Consistent with

Absent

15,000

6.5

 

DMD

   

03

Consistent with

Absent

15,820

4.0

 

DMD

   

04

Consistent with

Absent

23,000

5.5

 

DMD

   

053

Consistent with

Absent with rare

21,000

2.5

 

DMD

positive fibers

  

06

Consistent with

Absent

14,000

7.5

 

DMD

   

07

Consistent with

Absent

11,906

3.7

 

DMD

   

08

Consistent with

Absent

14,000

4.0

 

DMD

   
  1. 1Dystrophin analysis by either western blot or immunohistochemistry or both. 2Normal range of CPK level is 0–250 IU/L. 3Patient 05 was also tested for the sarcoglycans and all were found present
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BMC Genomic Data

ISSN: 2730-6844

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